(Q38106894)

29 August 2017

title

Gastrointestinal and hepatic manifestations of mitochondrial disorders (English)

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29 August 2017

Shamima Rahman

1

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29 August 2017

publication date

15 May 2013

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Journal of Inherited Metabolic Disease

29 August 2017

published in

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29 August 2017

volume

36

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29 August 2017

issue

4

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29 August 2017

page(s)

659-673

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The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1

29 August 2017

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Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy

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Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency

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MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.

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Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

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Complex I deficiency: clinical features, biochemistry and molecular genetics

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Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.

21 January 2018

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Toward genotype phenotype correlations in GFM1 mutations.

21 January 2018

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Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy

21 January 2018

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Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy

21 January 2018

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The elusive magic pill: finding effective therapies for mitochondrial disorders

21 January 2018

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Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.

21 January 2018

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Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach

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Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): a personal review

21 January 2018

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Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome

21 January 2018

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Melas: an original case and clinical criteria for diagnosis

21 January 2018

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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

POLG1 manifestations in childhood

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Navajo neurohepatopathy is caused by a mutation in the MPV17 gene

21 January 2018

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Fatal deterioration of neurological disease after orthotopic liver transplantation for valproic acid-induced liver damage.

21 January 2018

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Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

21 January 2018

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Mitochondrial hepatopathies: advances in genetics and pathogenesis

21 January 2018

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New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Carrier erythrocyte entrapped thymidine phosphorylase therapy for MNGIE.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Mitochondria and redox signaling in steatohepatitis

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine

21 January 2018

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Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Neonatal liver failure due to deoxyguanosine kinase deficiency

21 January 2018

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Congenital oculoskeletal myopathy with abnormal muscle and liver mitochondria

21 January 2018

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Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion

21 January 2018

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Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients

21 January 2018

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A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

21 January 2018

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Single deletions in mitochondrial DNA--molecular mechanisms and disease phenotypes in clinical practice

21 January 2018

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Mitochondrial disease and epilepsy

21 January 2018

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Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases

21 January 2018

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Diagnosis of mitochondrial DNA depletion syndromes

21 January 2018

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Hearing in 44-45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Mitochondrial DNA depletion and dGK gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Loss of function of Sco1 and its interaction with cytochrome c oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Mitochondrial disorders: prevalence, myths and advances.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Mitochondrial disorders as windows into an ancient organelle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Acute infantile liver failure due to mutations in the TRMU gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9614-2

A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy

21 January 2018

1 reference

12 December 2020

Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy

1 reference

12 December 2020

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome

1 reference

12 December 2020

Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria

1 reference

12 December 2020

ORTHOTOPIC LIVER TRANSPLANTATION FOR MITOCHONDRIAL RESPIRATORY CHAIN DISORDERS: A STUDY OF 5 CHILDREN1

1 reference

12 December 2020

Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome

1 reference

12 December 2020

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.

1 reference

12 December 2020

Prevalence of Mitochondrial 1555A→G Mutation in European Children

1 reference

12 December 2020

Bowel obstruction in patients with Alpers-Huttenlocher syndrome.

1 reference

12 December 2020

Case report of a successful liver transplantation for acute liver failure due to mitochondrial respiratory chain complex III deficiency

1 reference

12 December 2020

Mitochondrial respiratory chain defect: a new etiology for neonatal cholestasis and early liver insufficiency

1 reference

12 December 2020

Mitochondrial diseases

1 reference

12 December 2020

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.

1 reference

12 December 2020

Generalised mitochondrial cytopathy is an absolute contraindication to orthotopic liver transplant in childhood

1 reference

12 December 2020

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

1 reference

12 December 2020

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

1 reference

12 December 2020

175th ENMC International Workshop: Mitochondrial protein synthesis in health and disease, 25–27th June 2010, Naarden, The Netherlands

1 reference

12 December 2020

End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency: no contra-indication for liver transplantation

1 reference

12 December 2020

Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria).

1 reference

12 December 2020

The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities

1 reference

12 December 2020

Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation

1 reference

12 December 2020

10.1007/S10545-013-9614-2

Identifiers

DOI

1 reference

Dimensions Publication ID

29 August 2017

1008870923

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Fatcat ID

release_22dkb6kzgbhthjbtzasv5quvsa

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Fatcat

https://api.fatcat.wiki/v0/release/22dkb6kzgbhthjbtzasv5quvsa

24 November 2022

mapped directly with Wikidata item

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